Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445655G>T , CM000663.2:g.15445655G>T | GRCh38 |
| NC_000001.10:g.15772150G>T , CM000663.1:g.15772150G>T | GRCh37 |
| NC_000001.9:g.15644737G>T | NCBI36 |
| NG_009253.1:g.12213G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.698G>T MANE Select | ENSP00000365116.4:p.Gly233Val | |
| ENST00000375943.6:c.*152G>T | ENSP00000365110.2:n.*152G>T | |
| ENST00000375949.4:c.698G>T | ENSP00000365116.4:p.Gly233Val | |
| ENST00000483406.1:n.462G>T | ||
| NM_007272.2:c.698G>T | NP_009203.2:p.Gly233Val | |
| XM_011540550.1:c.552G>T | XP_011538852.1:p.Trp184Cys | |
| NM_007272.3:c.698G>T MANE Select | NP_009203.2:p.Gly233Val |